Literature DB >> 29159724

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Fatma Derya Bulut1, Deniz Kör2, Berna Şeker-Yılmaz3, Gülen Gül-Mert2, Sebile Kılavuz4, Neslihan Önenli-Mungan4.   

Abstract

Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.

Entities:  

Keywords:  Acrocyanosis; C4 and C5 acylcarnitines; Ethylmalonic encephalopathy; Short chain acyl-CoA dehydrogenase deficiency

Mesh：

Substances：

Year:  2017        PMID： 29159724     DOI： 10.1007/s11011-017-0152-8

Source DB:  PubMed          Journal:  Metab Brain Dis        ISSN： 0885-7490            Impact factor:   3.584


  12 in total

1.  Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.

Authors:  H R Yoon; S H Hahn; Y M Ahn; S H Jang; Y J Shin; E H Lee; K H Ryu; B L Eun; P Rinaldo; S Yamaguchi
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

2.  A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.

Authors:  Maja Di Rocco; Ubaldo Caruso; Egill Briem; Andrea Rossi; Anna E M Allegri; Davide Buzzi; Valeria Tiranti
Journal:  Mol Genet Metab       Date:  2006-07-07       Impact factor: 4.797

3.  New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Authors:  A Burlina; F Zacchello; C Dionisi-Vici; E Bertini; G Sabetta; M J Bennet; D E Hale; E Schmidt-Sommerfeld; P Rinaldo
Journal:  Lancet       Date:  1991-12-14       Impact factor: 79.321

4.  Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Authors:  Carlo Viscomi; Alberto B Burlina; Imad Dweikat; Mario Savoiardo; Costanza Lamperti; Tatjana Hildebrandt; Valeria Tiranti; Massimo Zeviani
Journal:  Nat Med       Date:  2010-07-25       Impact factor: 53.440

5.  Clinical heterogeneity in ethylmalonic encephalopathy.

Authors:  Nicole Pigeon; Philippe M Campeau; Denis Cyr; Bernard Lemieux; Joe T R Clarke
Journal:  J Child Neurol       Date:  2009-03-16       Impact factor: 1.987

6.  Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Authors:  R Mineri; M Rimoldi; A B Burlina; S Koskull; C Perletti; B Heese; U von Döbeln; P Mereghetti; I Di Meo; F Invernizzi; M Zeviani; G Uziel; V Tiranti
Journal:  J Med Genet       Date:  2008-07       Impact factor: 6.318

7.  Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Authors:  Carlo Dionisi-Vici; Daria Diodato; Giuliano Torre; Stefano Picca; Rosanna Pariante; Sergio Giuseppe Picardo; Ivano Di Meo; Cristiano Rizzo; Valeria Tiranti; Massimo Zeviani; Jean De Ville De Goyet
Journal:  Brain       Date:  2016-02-25       Impact factor: 13.501

8.  Severe early onset ethylmalonic encephalopathy with West syndrome.

Authors:  Laura Papetti; Giacomo Garone; Livia Schettini; Carla Giordano; Francesco Nicita; Paola Papoff; Massimo Zeviani; Vincenzo Leuzzi; Alberto Spalice
Journal:  Metab Brain Dis       Date:  2015-07-21       Impact factor: 3.584

9.  Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Authors:  Valeria Tiranti; Pio D'Adamo; Egill Briem; Gianfrancesco Ferrari; Rossana Mineri; Eleonora Lamantea; Hanna Mandel; Paolo Balestri; Maria-Teresa Garcia-Silva; Brigitte Vollmer; Piero Rinaldo; Si Houn Hahn; James Leonard; Shamima Rahman; Carlo Dionisi-Vici; Barbara Garavaglia; Paolo Gasparini; Massimo Zeviani
Journal:  Am J Hum Genet       Date:  2004-01-19       Impact factor: 11.025

10.  Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.

Authors:  Ivano Di Meo; Alberto Auricchio; Costanza Lamperti; Alberto Burlina; Carlo Viscomi; Massimo Zeviani
Journal:  EMBO Mol Med       Date:  2012-08-20       Impact factor: 12.137
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